Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.S1918F
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SCN1A

NM_001165963.4:p.S1918F

Associated Papers

Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.

Dong R et al.

Journal of Human Genetics, 2024

Next-Generation Sequencing Technologies and Neurogenetic Diseases.

Sun H et al.

Life (basel, Switzerland), 2021

Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes.

Chan CK et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."